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Coxoauricular syndrome

Orpha number ORPHA1508
Synonym(s) -
Prevalence <1 / 1 000 000
Inheritance X-linked dominant
Age of onset Neonatal
ICD-10
  • Q87.1
ICD-O -
OMIM
UMLS -
MeSH -
MedDRA -

Summary

Coxoauricular syndrom is a dominantly inherited syndrome of short stature, ear malformations and hip dislocation. It was originally described in a mother and her 3 daughters, all of whom shared, in variable manner, shortness of stature, minor vertebral and pelvic changes, dislocated hip(s) and microtia with corresponding conductive hearing loss. X-linked dominant inheritance with lethality in hemizygous males is possible.

Expert reviewer(s)

  • Dr Martine LE MERRER

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